Papillonlefevre syndrome is probably inherited as an autosomal recessive disease with an incidence of 14 per million people. Haimmunk syndrome nord national organization for rare. Papillonlefevre syndrome an autosomal recessive omim. As noted above see causes, evidence indicates that papillonlefevre syndrome may be due to certain mutations of the same gene i. S230 journal of the college of physicians and surgeons pakistan 2014, vol. The periodontal lesions begin shortly after the start of both the primary and the permanent dentitions. Papillonlefevre disease description of papillonlefevre disease. Since these features are common to both dentistry and dermatology, members of both disciplines should be aware of the same because an early diagnosis of this condition can help to preserve the teeth by early. Instead, treatment aims to reduce symptoms and prevent or treat complications. Queratose palmoplantar com periodontopatia papillonlefevre. In most cases, the ppk is noted within the first 3 years of life. Papillonlefevre syndrome article about papillonlefevre. Its reported incidence is 14 per million and both the sexes are equally affected1.
Microbiological and serological investigations of oral lesions in. It is characterized by palmoplantar hyperkeratosis, periodontopathy and premature loss of deciduous as well as permanent dentition. Ctsc mutations lead to an almost total loss of cathepsin c activity which seems to result in susceptibility to. Orofaciodigital syndrome 1 ofd1, also called papillonleague and psaume syndrome, is an xlinked congenital disorder characterized by malformations of the face, oral cavity, and digits with polycystic kidney disease and variable involvement of the central nervous system. It is characterized by erythematous palmoplantar hyperkeratosis and earlyonset aggressive periodontitis. A 34 yearold woman presented with complaints of diffuse hyperkeratosis with scaling over both palms. It is characterized by palmoplantar keratoderma with periodontitis followed by the premature shedding of both deciduous and permanent teeth. Papillonlefevre syndrome pls is a rare autosomal recessive disorder of keratinisation, characterized by palmoplantar hyperkeratosis, periodontitis and early loss of dentition. Iosr journal of dental and medical sciences iosrjdms eissn. Arocha lc, wakszol e, larotta e, rodriguez mc, arreaza lr, millan mc, adencio c, rodriguez j, del nogal b. Papillon lefevre syndrome is a certain genetic predisposition. Papillon lefevre syndrome a rare syndrome treated osteo3d. Papillonlefevre syndrome pls is a rare autosomal recessive. Periodontitis resulting from papillonlefevre syndrome has been known to cause early loss.
When 2 such carriers mate, there is a 25% chance of producing affected offspring. Papillonlefevre syndrome definition of papillonlefevre. The etiopathogenesis of the syndrome is relatively obscure, and immunologic, genetic, or possible bacterial etiologies have been proposed. It is characterized by redness and thickening of the palms and soles, along with extensive. Papillonlefevre syndrome is inherited as an autosomal recessive trait. Recently identified genetic defect in pls has been.
A read is counted each time someone views a publication summary such as the title, abstract, and list of authors, clicks on a figure, or views or downloads the fulltext. Papillonlefevre syndrome pls is a rare genetically inherited autosomal recessive disorder. Paulus, dds pediatric dentistry resident april, 2009 slideshare uses cookies to improve functionality and performance, and to. On clinical examination he had severe palmer and plantar hyperkeratosis in his hands and legs. Papillon lefevre syndrome genetic and rare diseases. In the general population, the disorder occurs in approximately one to four individuals per million. High impact information on papillonlefevre disease. Papillon lefevre syndrome pls was first described by two french physicians, papillon and lefevre, in france. The disorder is inherited by an autosomal recessive trait leading to gene mutation. Numerous treatment regimens for the periodontal disease seen in pls can be found in the literature. Charfeddine c, mokni m, ben mousli r, elkares r, bouchlaka c, boubaker s, et al. Papillonlefevres syndrome prevention and treatment. Papillonlefevre syndrome disease, papillonlefevre papillon lefevre disease papillon lefevre syndrome syndrome, papillonlefevre.
A clinical and genetic analysis of the papillonlefevre syndrome. The syndrome may be seen in families but generally the parents are asymptomatic carriers of the gene. Abstract the papillon lefevre syndrome is a rare syndrome that appears in 1 to 4 live births per millon. The syndrome is a rare autosomal recessive trait with an estimated prevalence of. Papillonlefevre syndrome pls is a rare autosomal recessive heterogeneous trait which is characterized by erythematous palmoplantar hyperkeratosis, earlyonset periodontitis, and associated calcification of dura mater. Syndrome pop culture when innocent heroworship goes unrequited, the consequences can be dire for both the admirer and the admired. Home medical encyclopedia p papillonlefevre disease part number. The etiology of pls is multifactorial with genetic, immunological, and microbial factors playing a role in etiopathogenesis. Papillonlefevre syndrome is thought to be an autosomal. Some of the earlier suspected causes of papillon lefevre syndrome include vitamin a deficiency. Rare, autosomal recessive disorder occurring between the first and fifth years of life. S230s232 introduction papillonlefevre syndrome pls was first described by two french physicians m. A 26 year old patient came to us with no teeth since he was 14 years old. Patients with pls should be seen regularly by a pediatrician, dermatologist, ophthalmologist, periodontist, and various surgeons.
It was first described by two french physicians, papillon and lefevre in 1924 1. Papillon and paul lefevre in 1924 as a condition characterized by hyperkeratosis of. Our patient had palmoplantar keratoderma, extension of skin lesions beyond the palms and soles and associated manifestations like hepatosplenomegaly and congenital hydrocele. Papillonlefevre syndrome pls is a rare autosomal recessive disorder of keratinization. The syndrome should be diagnosed as earlier as possible, so the teeth can be kept longer in the mouth, helping the development of the maxillary bones. Incredibles wannabe sidekick turned bad guy, from the incredibles 2004. More than 200 cases have been reported in the medical literature. Lo calization of a gene for papillonlefevre syndrome to chromo some 11q14q21. Both the milk teeth and the permanent teeth are lost prematurely. Papillonlefevre syndrome synonyms, papillonlefevre syndrome pronunciation, papillonlefevre syndrome translation, english dictionary definition of papillonlefevre syndrome. A group of symptoms that collectively indicate or characterize a disease, disorder, or other condition considered abnormal.
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